GLUCOSYLCERAMIDE BETA GLUCOSIDASE DEFICIENCY DISEASE
\ɡlˈuːkəsˌɪlsɪɹˌama͡ɪd bˈiːtə ɡlˈuːkəsˌɪde͡ɪs dɪfˈɪʃənsi dɪzˈiːz], \ɡlˈuːkəsˌɪlsɪɹˌamaɪd bˈiːtə ɡlˈuːkəsˌɪdeɪs dɪfˈɪʃənsi dɪzˈiːz], \ɡ_l_ˈuː_k_ə_s_ˌɪ_l_s_ɪ_ɹ_ˌa_m_aɪ_d b_ˈiː_t_ə ɡ_l_ˈuː_k_ə_s_ˌɪ_d_eɪ_s d_ɪ_f_ˈɪ_ʃ_ə_n_s_i d_ɪ_z_ˈiː_z]\
Definitions of GLUCOSYLCERAMIDE BETA GLUCOSIDASE DEFICIENCY DISEASE
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An autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase (see GLUCOSYLCERAMIDASE) featuring the pathological storage of glycosylceramide in mononuclear PHAGOCYTES (Gaucher Cells). The most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities. The neuronopathic forms are divided into infantile and juvenile forms. The infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly. The juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ATAXIA, myoclonic SEIZURES, and spasticity. The neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons. (From Baillieres Clin Haematol 1997 Dec;10 (4):711-23; Menkes, Textbook of Child Neurology, 5th ed, p97)
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Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.
Nearby Words
- glucosine
- glucosinolates
- glucosuria
- glucosylceramidase
- glucosylceramide beta glucosidase
- Glucosylceramide Beta Glucosidase Deficiency Disease
- glucosylsphingosine glucosyl hydrolase
- glucosyltransferases
- glucotrol
- glucuronate
- glucuronates